RATIONALE Environmental exposures strongly influence the development and progression of asthma. We have previously demonstrated that mice exposed to a diet enriched with methyl donors during vulnerable periods of fetal development can enhance the heritable risk of allergic airway disease through epigenetic changes. There is conflicting evidence on the role of folate (one of the primary methyl d...

10-Formyltetrahydrofolate dehydrogenase is a ubiquitously expressed enzyme in the human body. It catalyses the formation of tetrahydrofolate and carbon dioxide from 10-formyltetrahydrofolate, thereby playing an important role in the human metabolism of one-carbon units. It is a two-domain protein in which the N-terminal domain hydrolyses 10-formyltetrahydrofolate into formate and tetrahydrofola...

Women who take folic acid periconceptionally reduce their risk of having a child with a neural tube defect (NTD) by >50%. A variant form of methylenetetrahydrofolate reductase (MTHFR) (677C-->T) is a known risk factor for NTDs, but the prevalence of the risk genotype explains only a small portion of the protective effect of folic acid. This has prompted the search for additional NTD-associated ...

Hyperhomocysteinemia has been identified as a risk factor for coronary artery disease (CAD).1-9 In a nested case control study in Norway on 21,826 subjects in general population, hyperhomocysteinemia was clearly identified as an independent risk factor for CAD with no threshold level.9 Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the methylation of homocysteine and its role in...

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...

Formaldehyde is extremely toxic reacting with proteins to crosslinks peptide chains. Formaldehyde is a metabolic product in many enzymatic reactions and the question of how these enzymes are protected from the formaldehyde that is generated has largely remained unanswered. Early experiments from our laboratory showed that two liver mitochondrial enzymes, dimethylglycine dehydrogenase (DMGDH) an...

The first experiments on hydrogen transfer in the thymidylate synthetase reaction (Equation 1) were reported by Friedkin (2, 3). Borohydride labeled with tritium was used to reduce folic acid to tritium-labeled tetrahydrofolate which was then treated with formaldehyde to yield the 5, lo-methylene derivative. When the latter compound was used as substrate for thymidylate synthetase (prepared fro...

DHFR: dihydrofolate reductase MTHFR: methylenetetrahydrofolate reductase INTRODUCTION Psoriasis is a chronic disease that causes erythematous patches with silver plaques and scales, often drastically affecting the quality of life of those afflicted by this disease. Psoriasis is a hyperproliferative disease, which is thought to be the result of a dysregulated immune system, specifically overacti...

Prevalence of methylene tetrahydrofolate reductase (MTHFR) gene mutations in South Indian population was investigated from a total of 608 samples, 420 adults and 188 newborns. Detection of mutation was carried out focussing on the two most common mutations of the MTHFR gene (C677T and A1298C) using PCRbased RFLP method. T-allele frequency was almost similar between the newborns and adults (0.09...

Venous intestinal ischemia is a relatively rare disease, which has some predisposing factor up to 80 % of cases. These factors may be temporary or permanent. Cancer, immobilization, trauma, intraabdominal infections, or oral contraceptives are temporary factors. Paroxysmal nocturnal hemoglobinuria and hypercoagulability states as factor V Leiden, G20210A mutation in prothrombin gene, C677T meth...